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This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
TMEM114 (Transmembrane Protein 114) is a Protein Coding gene. Diseases associated with TMEM114 include Galactosemia Ii and Cataract 6, Multiple Types. An important paralog of this gene is TMEM235.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J008589 | Enhancer | 0.2 | Ensembl | 250.7 | +0.3 | 334 | 1 | TMEM114 HSALNG0109400 | ||
GH16J008591 | Enhancer | 0.2 | Ensembl | 250.7 | +1.2 | 1210 | 0.2 | TMEM114 HSALNG0109400 | ||
GH16J008631 | Promoter/Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 11.2 | -42.2 | -42249 | 2 | HOMEZ GABPA RBM22 JUND SPI1 TCF12 FOS CREB1 CTCF | C16orf72 METTL22 TMEM114 USP7 HSALNG0109409 lnc-ABAT-8 ABAT | |
GH16J008655 | Enhancer | 1 | Ensembl ENCODE | 11.7 | -64.9 | -64890 | 0.8 | BCL11A CTCF IRF4 SAP130 EBF1 RAD21 RARA SMC3 CBFB SPI1 | TMEM114 RNU7-63P HSALNG0109413 piR-38352-211 ABAT METTL22 | |
GH16J008635 | Enhancer | 0.9 | ENCODE dbSUPER | 11 | -45.0 | -45028 | 0.2 | CTCF HOMEZ REST ZNF316 RAD21 NFE2 ZNF2 MLLT1 MAFG ZNF384 | HSALNG0109409 TMEM114 HSALNG0109411 METTL22 ABAT |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IEA,IBA | 21873635 |
GO:0016327 | apicolateral plasma membrane | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
EMP1 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM114 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM114 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM114 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmem114 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cldn26 30 31 |
|
OneToOne | |
Tmem114 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM114 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TMEM114 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM114 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM114 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem114 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100150208 30 |
|
||
TMEM114 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1048548807 | - |
p.Ile35Thr |
|||
rs141472774 | - |
p.Ala147Val |
|||
VAR_058709 | - |
p.Phe206Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
galactosemia ii |
|
|
cataract 6, multiple types |
|
|
cataract 32, multiple types |
|
|
cataract |
|
|
cataract 16, multiple types |
|
|